JAK2 c.2081T>C ;(p.F694S)

Variant ID: 9-5078394-T-C

NM_004972.3(JAK2):c.2081T>C;(p.F694S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Clinical features and prognosis of pediatric acute lymphocytic leukemia with JAK-STAT pathway genetic abnormalities: a case series.

Annals Of Hematology
Hu, Mengze M; Liu, Rong R; Li, Juanjuan J; Zhang, Lei L; Cao, Jing J; Yue, Mei M; Zhong, Dixiao D; Tang, Ruihong R
Publication Date: 2023-05-20

Variant appearance in text: JAK2: F694S
PubMed Link: 37209119
Variant Present in the following documents:
  • Main text
  • 277_2023_Article_5245.pdf
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Advances in molecular characterization of myeloid proliferations associated with Down syndrome.

Frontiers In Genetics
Li, Jixia J; Kalev-Zylinska, Maggie L ML
Publication Date: 2022

Variant appearance in text: JAK2: F694S
PubMed Link: 36035173
Variant Present in the following documents:
  • Main text
  • fgene-13-891214.pdf
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Network Analysis Reveals Synergistic Genetic Dependencies for Rational Combination Therapy in Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Ding, Yang-Yang YY; Kim, Hannah H; Madden, Kellyn K; Loftus, Joseph P JP; Chen, Gregory M GM; Allen, David Hottman DH; Zhang, Ruitao R; Xu, Jason J; Chen, Chia-Hui CH; Hu, Yuxuan Y; Tasian, Sarah K SK; Tan, Kai K
Publication Date: 2021-09-15

Variant appearance in text: JAK2: F694S
PubMed Link: 34210682
Variant Present in the following documents:
  • 5109.pdf
View BVdb publication page



Network Analysis Reveals Synergistic Genetic Dependencies for Rational Combination Therapy in Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Ding, Yang-Yang YY; Kim, Hannah H; Madden, Kellyn K; Loftus, Joseph P JP; Chen, Gregory M GM; Allen, David Hottman DH; Zhang, Ruitao R; Xu, Jason J; Chen, Chia-Hui CH; Hu, Yuxuan Y; Tasian, Sarah K SK; Tan, Kai K
Publication Date: 2021-09-15

Variant appearance in text: JAK2: F694S
PubMed Link: 34210682
Variant Present in the following documents:
  • 5109.pdf
View BVdb publication page



Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine
Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R
Publication Date: 2020-09-21

Variant appearance in text: JAK2: F694S
PubMed Link: 32967112
Variant Present in the following documents:
  • jpm-10-00137-s001.pdf
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High incidence of Philadelphia chromosome-like acute lymphoblastic leukemia in older adults with B-ALL.

Leukemia
Tasian, S K SK; Hurtz, C C; Wertheim, G B GB; Bailey, N G NG; Lim, M S MS; Harvey, R C RC; Chen, I-M IM; Willman, C L CL; Astles, R R; Zebrowski, A A; Reshmi, S C SC; Li, M M MM; Frey, N V NV; Luger, S M SM; Carroll, M M; Perl, A E AE
Publication Date: 2017-04

Variant appearance in text: JAK2: F694S
PubMed Link: 27932787
Variant Present in the following documents:
  • NIHMS832531-supplement-2.xlsx, sheet 1
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A JAK2 interdomain linker relays Epo receptor engagement signals to kinase activation.

The Journal Of Biological Chemistry
Zhao, Lequn L; Dong, Hongyun H; Zhang, Cheng Cheng CC; Kinch, Lisa L; Osawa, Mitsujiro M; Iacovino, Michelina M; Grishin, Nikolai V NV; Kyba, Michael M; Huang, Lily Jun-shen LJ
Publication Date: 2009-09-25

Variant appearance in text: JAK2: F694S
PubMed Link: 19638629
Variant Present in the following documents:
  • Main text
View BVdb publication page